Progressive Myoclonic Epilepsy'-like presentation of Cerebrotendinous Xanthomatosis in an Indian Family with A Novel C.646+1G>A Splice Site Mutation.

Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal-recessive inborn disorder of bile acid metabolism due to mutations in the gene. It presents with a diverse range of neurological and non-neurological symptoms. We present a case of CTX with a progressive myoclonic epilepsy (PME) like phenotype and a family history of CTX.

Rare and Treatable Cause of Early-Onset Refractory Absence Seizures.

Glut-1 transporter deficiency syndrome (GLUT1-DS) is a rare disorder caused by the mutation in SLC2A1 gene, which results in impaired glucose transport into the brain. It has a broad spectrum of phenotypic presentation ranging from cognitive decline, microcephaly, and refractory seizures to complex movement disorder. Recognition of this disorder is necessary as it is refractory to antiepileptic drugs (AEDs) and responds significantly to ketogenic diet.